Details of Disease

General Information of Disease (ID: DIS3MD0D)

• Disease Name: Autosomal dominant Alport syndrome
• Synonyms: Alport syndrome dominant type; renal failure and sensorineural hearing loss; Alport syndrome, autosomal dominant; Alport syndrome 3, autosomal dominant
• Definition: Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell.
• Disease Hierarchy:
  DIS25AB4: Alport syndrome
  DIS3HIWD: Autosomal dominant disease
  DIS3MD0D: Autosomal dominant Alport syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0007086
  UMLS CUI: C4746547
  OMIM ID: 104200
  MedGen ID: 1648326
  Orphanet ID: 88918

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL4A4	OT9G0MCT	Supportive	Autosomal dominant	[1]
COL4A3	OT6SB8X5	Definitive	Autosomal dominant	[2]

References

• [1] Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4). Nephrol Dial Transplant. 1997 Aug;12(8):1595-9. doi: 10.1093/ndt/12.8.1595.
• [2] Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. J Am Soc Nephrol. 2001 Jan;12(1):97-106. doi: 10.1681/ASN.V12197.